Congenital Eye Anomalies PDF

MODULE 3: CONGENITAL ANOMALIES ANTERIOR EYE PORTION Congenital Lid Disorders Epicanthal folds - redundant folds of skin in...

MODULE 3: CONGENITAL ANOMALIES ANTERIOR EYE PORTION Congenital Lid Disorders Epicanthal folds - redundant folds of skin in the medial canthal region Cryptophthalmos - “hidden eye” May be: - Congenital absence of the eyelids (skin covers the eyes) ‣ A normal finding - Eyeball is small and defective ‣ An isolated facial development anomaly - Cornea and conjunctiva usually do not develop ‣ Seen in conjunction with syndromes (Down - Incorrect formation and migration of the eyelid folds, with syndrome and blepharophimosis, ptosis and eventual adherence of the eyelids to the ocular surface epicanthus inversus syndrome (BPES) Telecanthus - widened intercanthal distance in the presence of normal Eyelid Coloboma IPD - Anatomic disruption or void along the eyelid margin - Has a prevalence of 0.7 per 10,000 births - Failure in the development of the underlying mesenchymal tissues - Drying and ulceration of cornea can result from lower eyelid coloboma - lower lid drying is very common which is why the px Epiblepharon is prone to dry eye and ulcer - inward rotation of lashes - Inward displacement of pretarsal skin and orbicularis towards the globe - Typically bilateral and generally affects the medial lower eyelids Anklyoblepharon - Complete or partially joined eyelids Congenital Entropion - eyelid margin turns inward - Caused by a deficiency in posterior lamella with associated dysgenesis of lower eyelid retractors ‣ An EOM problem S.C.  Megalocornea - horizontal corneal diameter is greater than 12mm in newborns or greater than 13mm in adults - Bilateral symmetrical condition - Often an isolated condition ✦ Refresher ➡ Entropion = turning IN of the eyelid margin ➡ Ectropion = turning OUT of the eyelid margin Congenital Ptosis Cornea Plana - Drooping of upper eyelid from its normal position - cornea with a radius of curvature flatter than 43D - May be unilateral or bilateral - Cornea is commonly flat as the adjacent sclera - Is non-progressive but may result in amblyopia and - Standard K readings of 30-38D significant astigmatism - Ptosis = weak innervation from levator palpebrae muscle - Dahil sa lid pressure, nagkakaron ng corneal irregularity = Keratoglobus producing high astigmatism - refractive error must be monitored pag may ptosis para di - bilateral, symmetrical, diffuse thinning and protrusion of maging amblyopic the cornea - If eor is left untreated, the eye would become lazy eye in - K readings are commonly in the range of 60-70D the future Congenital Corneal and Scleral Anomalies Microcornea - characterized by horizontal corneal diameters of ‣ less than 9mm in newborns ✦ Keratoconus vs Keratoglobus ‣ less than 10mm in adults - Unilateral or bilateral ➡ Keratoconus = apical thinning with normal - Arises when cornea has minimal space to develop due to curvature of periphery an overgrowth of the anterior tips of the optic cup during ➡ Keratoglobus = peripheral thinning that then embryonic development bulges S.C.  Corneal Dystrophies Corneal Congenital Hereditary Endothelial Dystrophies Dystrophy (CHED) - diffuse corneal edema present at birth or shortly right Sclerocornea after - Bilateral, non-progressive - congenital, non-progressive scleralization of peripheral - Corneas have a diffuse blue-gray appearance cornea - Bilateral but asymmetrical - On examination: central cornea is less opaque than peripheral cornea Corneal Posterior Polymorphous Corneal Dystrophies Dystrophy (PPCD) - endothelial layer can show gray opacities or linear gray- Peters Anomaly white streaks - Descemet’s membrane can have a single or grouped vesicular lesions Peters Anomaly Type I - central corneal opacity and iridocorneal adhesions without affecting the crystalline lens - Corneal periphery is clear, and corneal vascularization is absent Corneal Congenital Stromal Corneal Dystrophies Dystrophy (CSCD) - also known as “Congenital Hereditary Stromal Dystrophy (CHSD) - Bilateral, diffuse, corneal clouding with dense flake-like stromal deposits anteriorly and centrally Peters Anomaly Type II - features of Peters anomaly type 1 is present with vascularization and keratolenticular adhesions - Lens fail to separate from the cornea Congenital Iris Anomalies Dermoids - Epibulbar Choristomas - Congenital, solid, benign tumors that can affect both Congenital Aniridia cornea and sclera - lack of iris tissue or almost complete absence of iris - Appearance: oval, firm, yellowish-white masses - Results from an arrest of development at the rim of optic cup during 8th week S.C.  Iris Coloboma Lens Duplication - defect in the inferior sector of the iris or a notch in the - extremely rare malformation pupillary margin - Associated with corneal metaplasia, uveal coloboma, and - Gives the pupil a keyhole appearance cornea plana Lens Congenital Aphakia Lenticonus and Lentiglobus - the absence of lens at birth - developmental malformations of the anterior and posterior lens surfaces ✤ Lenticonus - conical defect ✤ Lentiglobus - spherical defect Primary Congenital Aphakia - results from failure of the lens placode to form during the 4th week - Can also result from a variety of teratogenic events Secondary Congenital Aphakia - lens develop but is later reabsorbed or expulsed from Microspherophakia developing eye - lens is spherical with reduced size and diameter - results from arrested development of lens fibers Lens Coloboma - may occur as part of hereditary systemic disorder or isolated autosomal recessive congenital disorder - occurs when there is failure of zonular development - scalloped edges or lens indentations indicate areas of absent zonules - may occur unilaterally as an isolated anomaly or bilaterally as part of uveo-retinal-coloboma phenotype - mostly occurs inferiorly or infero-temporally due to incomplete closure of embryonic fissure during development S.C. - border ng lens - Makikita mostly sa presbyopic px pag nagiol na sila Congenital Cataracts Ectopia Lentis - may be unilateral or bilateral - lens dislocation - vary in size, morphology and degree of opacification - results from both systemic and ocular disorders that affect - Opacification is caused by the positioning of the lens the structure and functions of ciliary zonules Types: ‣ Anterior polar cataract ‣ Nuclear cataract ‣ Lamellar cataract ‣ Posterior subcapsular cataract MODULE 4: CONGENITAL ANOMALIES POSTERIOR EYE PORTION Persistence of Hyaloid Artery Optic nerve aplasia - Failure of the distal part if the hyaloid artery to degenerate - May appear as a freely moving, non-functional vessel or - rare condition where optic nerve fails to develop vessel or worm like structure projecting from optic disc - generally accompanied by microphtalmos, anencephaly - may also appear as fine strand traversing the vitreous and CNS anomalies body Diagnostic criteria: No pupillary light reflex Absence of optic disc, nerve fiber layer and retinal blood vessels Retinal Detachment - occurs when inner and outer layers of optic cup fails to fuse during fetal period to form the retina and obliterate the intraretinal space - may also result from unequal rates of growth of the two Optic Nerve Hypoplasia retinal layers - separation may be partial or incomplete - optic disc is not fully developed - the discs have fewer nerve fibers than normal - characterized by "double ring" ‣ disc is surrounded by yellowish ring of sclera and outer ring of hyperpigmentation S.C.  Optic Disc Coloboma - abnormal excavation of the disc due to incomplete closure Megalopapilla of the inferior optic cleft during embryonic development - enlarged optic disc - appears as sharply well defined whitish excavation located - disc is more than 2.1mm in diameter at inferior area of disc Morning Glory Disc Anomaly Cyclopia - Abnormal development of the distal optic stalk at its - eyes are partially or completely fused forming a single junction with the primitive optic vesicle median eye enclosed in a single orbit - appears as funnel shaped excavation of the posterior - associated with other craniocerebral defects that are fundus and enlarged ONH with elevated surrounding RPE incompatible with life - result from severe suppression of midline cerebral structures that develop from neural plate Myelinated Nerve Fibers - myelination extends to the optic nerve fiber layer of the retina - appear as white feathery patches causing opacification of Microphthalmia disc margins - eye is very small and associated with ocular defects - eye is underdeveloped and lens does not form - results from arrested development of the eye before or shortly after optic vesicles have formed in the 4th week Tilted Disc - optic nerve head inserts obliquely into the globe Anophthalmia - disc is tilted inferiorly and nasally - absence of eye - eyelids form but no eyeball develops S.C. - orbital defects also present MODULE 5: Teratogens and Ocular Malformations Case history difference between Adult and Teratogen Pediatric patients ➡ an environmental agent that has a permanent Adult patient Pediatric patient morphologic change in development Chief complain from both Chief complain parent and child Types of Teratogens Associated complain Associated complain ✤ Radiation OH, GH, MD, SH, FH Obstetric history Birth defects: ‣ Growth retardation Ocular, surgical, family ‣ Skeleteal and genital malformations history, medication intake microcephaly ‣ ✤ Infectious Agents Hobbies, interest ✤ Maternal Metabolic Imbalance School status ✤ Drugs and Chemicals Types of Teratogens Ocular Teratogens Definition Ocular Defects RADIATION Microphthalmos Cataract Optic Atrophy Diagnostic X-ray & Radioactive ✦ Ionizing radiation is responsible for Chorioretinitis Iodine (RAI) causing teratogenic effects Abnormal retinal pigmentation Strabismus Nystagmus Blindness lens opacification - exposure in 6th postovulatory week polychromatic plaques - exposure in 8th - Atomic Bomb Fall out 15th week posterior subcapsular changes - exposure after 15th week INFECTIOUS AGENTS S.C.  - leads to Congenital Rubella Syndrome ‣ Frequent (CRS) cataract pigmentary retinopathy Triad symptoms: strabismus Rubella eye malformations ‣ Less frequent heart malformations microphthalmos deafness iris hypoplasia glaucoma - Primary host: Cat ‣ Frequent - Ingesting oocytes or eating poorly cooked chorioretinitis meat containing the protozoa T. gondii severe bilateral visual impairment microphthalmia Birth anomalies: strabismus Congenital Toxoplasmosis Central Nervous System ‣ Less frequent Hematopoietic System iridocyclitis Ophthalmologic involvement glaucoma optic nerve hypoplasia cataract coloboma - DNA virus that causes a wide spectrum of disease in children and adults retinal scars ✤ Type 1 necrotizing retinitis Herpes Simplex (HSV) 1 and 2 - oral strain associated with ocular, skin microphthalmos lesion and encephalitis cataract ✤ Type 2 optic atrophy - genital strain that causes lesions in genital region - caused by a member of the herpes virus chorioretinitis Congenital Cytomegalic Virus family optic nerve atrophy (CMV) - Infection is similar to toxoplasmosis cortical visual impairment - Causative agent: Treponema pallidum interstitial keratitis - sexually transmitted disease cataracts Syphilis - organism crosses the placental barrier and pigmentary retinopathy genital syphilis may cause symptoms early optic atrophy secondary glaucoma - presumed to be the same virus with herpes Horner syndrome zoster blindess with retinal scar - initial response to virus: chicken pox disorganized eye - probable reactivation: herpes zoster microphthalmia Congenital Varicella Zoster (HZV) cataract optic nerve hypoplasia and atrophy nystagmus pupil abnormalities abnormal electroretinogram AIDS, HIV Birth defects: mental retardation - A c q u i r e d I m m u n e D e fi c i e n c y hypertelorism microcephaly Syndrome (AIDS) growth retardation blue sclera - Human Immunodeficiency Virus (HIV) S.C.  - cause: mouse, rodents - transmission: airborne or infected food chorioretinal scars Lymphocytic Choriomeningitis optic atrophy systemic findings: Virus (LCMV) cataract CNS micropthalmia m ay m i m i c t o x o p l a s m o s i s a n d cytomegalovirusinfection - Flavivirus transmitted by Aedes aegypti microcephaly Zika Virus mosquito Chorioretinal lesions Cerebral visual impairment MATERNAL METABOLIC IMBALANCE oculoauriculovertebral abnormalites Diabetes optic nerve hypoplasia microcornea and bilateral retinal colobomas Thyroid Disease in association with choanal atresia - Nervous system complications - Mobius Syndrome — facial problem Hyperthermia Micropthalmia - inherited disorder - Body of px cant breakdown protein to amino acids ocular abnormalities not common but Phenylketonuria Birth defects: strabismus has been reported mental retardation microcephaly congenital heart disease intrauterine growth retardation DRUGS AND CHEMICALS - dermatologic, oncologic and gastrointestinal conditions Birth defects: cranial nerves external ear Duane syndrome microphthalmos - strabismus condition due to iris coloboma Thalidomide uneven eye muscles uveal coloboma - Patient has a hard time looking in optic disc anomalies horizontal motion; the palpebral nystagmus fissure also minimizes aberrant lacrimation - unusual lacrimation thumb anomalies S.C.  - acne medication Isotretinoin embryopathy microphthalmos Retinoic acid / Etretinate / cranofacial anomalies facial palsy Tretinoin cardiac defects optic nerve anomalies CNS malformations retina anomalies hearing impairment developmental delay - long acting gatsric antisecretory activity - contraindicated in pregnancy because it increases uterine smooth muscle contraction Misoprostol / Cytolec - can cause an abortion Birth anomaly: Mobius Sequence Warfarin - treat thromboembolic disease and px with artificial heart valves bilateral optic atrophy Warfarin embryopathy microphthalmos Anticoagulants nasal hypoplasia lens opacities bone stippling hypertelorism ophthalmologic abnormalities prominent eyes with small eyelids intrauterine growth deficiency developmental delay Birth defects: Strabismus neural tube defects ptosis facial clefts ocular hypertelorism cardiac defects epicanthal folds skeletal defects microphthalmos Anti-Epileptics gastrointestinal defects iris and choroidal colobomas genitourinary defects PHPV Optic Nerve hypoplasia bilateral retinoschisis E O R ( s e v e r e h y p e r o p i a /m o d e r a t e astigmatism) Anticancer - Teratogenic effect on vital cellular structure Fetal Alcohol Syndrome ‣ Facial Anomalies short palpebral fissures smooth or flattened philtrum Alcohol thin vermilion border of upper lip ‣ Pre and postnatal growth retardation h e i g h t , w e i g h t a n d /o r h e ad circumference ‣ CNS abnormalities OTHER DRUGS OF ABUSE optic atrophy ON hypoplasia ptosis Cocaine coloboma microphthalmia retinal vascular changes lid edema S.C.  - unproven teratogenicity but has adverse Heroin and Marijuana effect on fetus pregnancy complications intrauterine growth retardation Cigarette Smoking malformations (cleft lip and palate) No established ocular problems elevated blood pressure possibly abnormal behavior microphthalmia / anophthalmia PHPV Lysergic Acid Diethylamide (LSD) retinal dysplasia ON hypoplasia ON coloboma S.C.